Sommario

• Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May, 2022, Brisbane, Australia

  • ·Population Genomic Screening of Young Adults for Familial Hypercholesterolaemia: A Cost-Effectiveness Analysis

    Pagina :S1

    P. Lacaze, C. Marquina, J. Tiller, M. Riaz, A. Sturm, M. Nelson, B. Ference, J. Pang, G. Watts, S. Nicholls, S. Zoungas, D. Liew, J. McNeil, Z. Ademi

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  • ·Evaluating the Clinical Utility of Polygenic Risk Score for Heart Failure

    Pagina :S1

    X. Mo, T. Lumbers, S. Shah

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  • ·Contribution and Functional Characterisation of Splice-Disrupting Variants in Inherited Heart Disease and Sudden Cardiac Death

    Pagina :S2

    E. Singer, N. Nowak, L. Yeates, C. Burns, S. Rajagopalan, I. Macciocca, J. Ingles, C. Semsarian, R. Bagnall

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  • ·Genetic Basis of Childhood Cardiomyopathy

    Pagina :S2

    R. Bagnall, E. Singer, J. Wacker, N. Nowak, J. Ingles, I. King, I. Macciocca, J. Crowe, A. Ronan, R. Weintraub, C. Semsarian

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  • ·Getting to the Heart of Genomics: Mainstreaming Cardiology Genomics in Queensland

    Pagina :S3

    M. Baldini, A. Rutstein, N. Morris

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  • ·NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study protocol

    Pagina :S4

    A. Butters, J. Do, F. Stafford, N. Krishnan, J. Brown, S. Hespe, E. Richardson, R. Bagnall, A. Bhaskaran, C. Burns, T. Driscoll, D. Fatkin, B. Gray, C. Iglesias, J. Isbister, A. Jabbour, R. Johnson, S. Kumar, F. Leslie, D. MacArthur, N. Nowak, J. Pouliopoulos, R. Puranik, C. Semsarian, J. Sweeting, R. Sy, M. Ugander, L. Yeates, J. Ingles

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  • ·Sex Disaggregated Analysis of Risk Factors for Adverse Outcomes in Hypertrophic Cardiomyopathy

    Pagina :S5

    A. Butters, C. Arnott, J. Sweeting, B. Claggett, E. Ashley, V. Parikh, S. Colan, S. Day, A. Owens, A. Helms, S. Saberi, D. Jacoby, M. Michels, I. Olivotto, A. Pereira, J. Rosanno, S. Wittekind, J. Ware, J. Atherton, C. Semsarian, N. Lakdawala, C. Ho, J. Ingles

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  • ·The Introduction and Development of a Genetic Counsellor-led Cardiac Genetics Service in a Metropolitan Hospital

    Pagina :S5

    H. Chalinor, S. Bodek, J. Bojadzieva, O. Farouque, D. Hare, J. Johns, L. Kearney, H. Lim, T. Lin, S. Mirzaee, J. Ramchand, L. Salmon, C. Stutterd, A. Teh, G. Valente, M. Wallis

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  • ·Bioinformatic Re-analysis of Data From the Australian Genomics Cardiovascular Genetic Disorders Flagship

    Pagina :S6

    Y. Chang, C. Semsarian, R. Bagnall

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  • ·Prevalence of Mitochondrial Genome Variants in an Inherited Heart Disease Cohort

    Pagina :S6

    J. Crowe, S. Barratt Ross, J. Ingles, R. Weintraub, C. Semsarian, R. Bagnall

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  • ·Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) – The paediatric experience in New South Wales (NSW)

    Pagina :S7

    N. Fitzgerald, J. Skinner, H. Asakai, C. Turner

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  • ·Brugada Syndrome in New Zealand: The Experience of the National Cardiac Inherited Disease Group

    Pagina :S7

    D. Gelbart, N. Earle, R. Stiles, T. Donohughe, A. Winbo, L. Marcondes, A. Martin, M. Stiles, J. Skinner

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  • ·Genetic Testing for Pulmonary Arterial Hypertension: Diagnostic Yield and Findings From a Cohort of Patients Referred for Targeted Panel Testing

    Pagina :S8

    J. Hathaway, E. Zilliacus, M. Cicerchia, J. Tommiska, S. Ahonen, E. Seppälä, K. Gall, A. Scocchia, I. Saarinen, M. Rantanen, J. Schleit, T. Kangas-Kontio, M. Gentile, P. Salmenperä, J. Paananen, S. Myllykangas, J. Koskenvuo

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  • ·A Young Patient With a Cardiomyopathy Caused by Mutations in the TAF1A Gene?

    Pagina :S8

    A. Helderman-van den Enden, P. Volders, G. Claes, J. Vanoevelen, D. Hellebrekers

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  • ·Reclassifying a LAMP2 Splicing Variant of Uncertain Significance to Pathogenic Following Familial Segregation and Functional RNA Diagnostics

    Pagina :S9

    A. Horton, A. Bournazos, F. Cunningham, M. Regan, S. Hope, I. Macciocca, E. Krzesinski, M. Hunter, S. Cooper

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  • ·Longitudinal CMR Assessment of Structural Phenotype in Brugada Syndrome

    Pagina :S9

    J. Isbister, A. Singh, B. Gray, L. Yeates, M. Bowman, H. Raju, C. Semsarian, R. Puranik, R. Sy

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  • ·Tango 2 Case Series: Cardiac Manifestations

    Pagina :S10

    K. Jardine, T. Robertson, M. Kava, D. Bratkovic, F. Stanley

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  • ·The Role of Genetic Testing in Diagnosis and Care of Inherited Cardiac Conditions in a Specialised Multidisciplinary Clinic

    Pagina :S10

    N. Krishnan, F. Stafford, E. Richardson, A. Butters, C. Burns, B. Gray, C. Medi, N. Nowak, J. Isbister, H. Raju, D. Richmond, M. Ryan, E. Singer, R. Sy, L. Yeates, R. Bagnall, C. Semsarian, J. Ingles

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  • ·End Unexplained Cardiac Death (EndUCD) NSW Registry: A Data Linkage Cohort Study Protocol

    Pagina :S11

    F. Leslie, S. Avis, R. Bagnall, J. Bendall, T. Briffa, I. Brouwer, A. Butters, G. Figtree, A. La Gerche, A. van Heusden, L. Nedkoff, E. Paratz, C. Semsarian, R. Sy, L. du Toit-Prinsloo, J. Sweeting, J. Ingles

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  • ·Slow Conduction Velocity Revealed in Hypertrophic Cardiomyopathy Modelled With Patient-Derived Induced Pluripotent Stem Cell Cardiomyocytes

    Pagina :S11

    S. Lim, M. Mangala, M. Holliday, S. Ross, W. Liang, G. Ranpura, H. Cserne Szappanos, A. Hill, C. Semsarian, L. Hool

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  • ·Use of Advanced Echocardiographic Modalities to Discriminate Preclinical Hypertrophic Cardiomyopathy Mutation Carriers From Non-Carriers

    Pagina :S12

    A. Lo, T. Mew, C. Mew, K. Guppy-Coles, A. Ng, J. McGaughran, S. Prasad, J. Atherton

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  • ·Patching the Gap Between Variant Identification and Risk Stratification for SCN5A-Associated Cardiac Diseases

    Pagina :S12

    J. Ma

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  • ·Comparison of Methods for Correcting QT Interval in Athletes and Young People: A Systematic Literature Review

    Pagina :S13

    S. Mahendran, I. Gupta, J. Davis, A. Davis, J. Orchard, J. Orchard

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  • ·Further Characterisation of the Cardiac Desminopathy Phenotype

    Pagina :S13

    E. Mahmoodi, C. Simpson, M. Brosnan, H. Haqqani

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  • ·Outcomes of Clinical Genetic Testing in Congenital Heart Disease – A Single-Site Audit Study

    Pagina :S14

    A. Morrish, B. O'Malley, D. Hilton, G. Sholler, B. Bennetts, J. Smith, G. Blue

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  • ·The Congenital Heart Disease Genetics Clinic: Evolving the Model of Care

    Pagina :S14

    A. Morrish, G. Sholler, J. Mervis, J. Smith, G. Blue

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  • ·Disproportionate Elevations of Cardiac Troponin in Fabry Disease: A Case Series of False Positives due to Macrotroponin

    Pagina :S15

    Y. Moussa, C. Suthaharen, K. Eisenhuth, K. Devine, G. Caldwell, M. Tchan, Y. Rahman

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  • ·This abstract has been withdrawn

    Pagina :S15

    
  • ·Analysis of Athlete QT Intervals by Age: Fridericia and Hodges Heart Rate Correction Methods Outperform the Bazett's Method for Athlete ECG Screening

    Pagina :S15

    J. Orchard, J. Orchard, H. Raju, A. La Gerche, R. Puranik, A. Davis, J. Drezner, C. Semsarian

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  • ·Efficient CRISPR-editing of Pluripotent Stem Cells for Modelling CPVT in Human Cardiac Organoids

    Pagina :S16

    M. Pocock, M. Doran, R. Mills, J. Hudson

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  • ·miR-151-3p and miR-214 Expression Associate With Clinical Phenotypes in BAV Aortopathy

    Pagina :S16

    S. Portelli, R. Padang, B. Hambly, R. Jeremy, E. Robertson

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  • ·The Elusive Hearts Study: Seeking Genetic Diagnoses in Gene-elusive Cases of Rare Monogenic Cardiovascular Diseases

    Pagina :S17

    E. Richardson, N. Krishnan, F. Stafford, L. Yeates, N. Nowak, J. McGaughran, J. Wildschutt, J. Smith, C. Turner, L. Kevin, A. Davis, I. Macciocca, V. Connell, A. Ma, C. Semsarian, R. Bagnall, O. Siggs, J. Skinner, D. MacArthur, J. Ingles

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  • ·Recurrent GJA1 Mutation Causing Infantile Arrhythmic Cardiomyopathy Fills Gap in Knowledge of the Junction

    Pagina :S17

    A. Ronan, S. Sugito, J. Leitch

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  • ·Troponin I Autoantibodies in a Patient with Desmoplakin Cardiomyopathy/Myocarditis Overlap Syndrome

    Pagina :S17

    S. Rowe, E. Paratz, A. La Gerche

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  • ·Embedding Genetic Counselling Into Cardiology Clinics: Case Studies From a Queensland Cardiology Genomics Service

    Pagina :S18

    A. Rutstein, M. Baldini, N. Morris, J. Atherton, L. McCormack, Y. Wong, A. Dashwood, Y. Wee, S. McKenzie, W. Wang, J. Hill, R. Denman, K. Ng, H. Haqqani

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  • ·Genetic Testing Outcomes in a Cohort of 21,159 Children With Heart Disease

    Pagina :S18

    N. Schonrock, A. Morales, A. Mitchell, J. Garcia, D. McKnight, T. Callis, C. Moretz, M. Vatta, S. Aradhya

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  • ·Precision Medicine Opportunities for Familial Arrhythmias and Cardiomyopathies Identified When Cost of Genetic Testing is Removed as a Barrier

    Pagina :S19

    N. Schonrock, T. Callis, K. Hatchell, E. Esplin, A. Morales, J. Garcia, M. Vatta, R. Nussbaum

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  • ·Practise Changing Research – Adding DNAH11 to a Congenital Heart Disease Panel

    Pagina :S19

    T. Thompson, D. Zentner, P. James, S. Taylor

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  • ·A Model for Collaboration: Sudden Death Pathway

    Pagina :S19

    T. Thompson, N. Morgan, V. Connell, D. Zentner, N. Woodford, A. Davis, A. Pflaumer, S. Parsons, P. James

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  • ·COPESCD — An Online Community Supporting Families After Sudden Cardiac Death in the Young: A Protocol for a Pilot Study

    Pagina :S20

    L. Yeates, K. Gardner, J. Do, L. van den Heuvel, F. Leslie, C. Semsarian, A. McEwen, L. Adlard, J. Ingles

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  • ·Victorian Inherited Cardiac Disorders Family Initiative (VicDFI)—Creating a Shared Cardiac Clinical Database Across the Life Spectrum

    Pagina :S20

    D. Zentner, A. Wiseman, T. Thompson, I. Dinatale, I. Macciocca, V. Connell, J. Mathew, A. Davis, P. James

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  • ·Diagnostic Yield of Panel Genetic Testing in a Cohort of >200 Patients With Congenital Heart Disease

    Pagina :S21

    E. Zilliacus, J. Hathaway, M. Cicerchia, J. Tommiska, S. Ahonen, E. Seppälä, K. Gall, A. Scocchia, I. Saarinen, M. Rantanen, J. Schleit, T. Kangas-Kontio, M. Gentile, P. Salmenperä, J. Paananen, S. Myllykangas, J. Koskenvuo

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